Overview LCA/EOSRD Retinitis pigmentosa Multimodal imaging References Overview Gene (OMIM no.) RPE65 (#180069) Function of gene/protein Protein: retinoid isomerase Recycling...

Overview LCA/EOSRD Bardet-Biedl syndrome Additional information Multimodal imaging References Overview Gene (OMIM No.) CEP290 (#610142) Function of gene/protein Protein: Centrosomal...

Overview LCA/EOSRD Additional information References Overview Gene (OMIM No.) AIPL1 (#604392) Function of gene/protein Protein: Aryl-hydrocarbon-interacting-protein-like 1 Photoreceptor development Involved...

Overview LCA/EOSRD Retinitis pigmentosa Additional information Multimodal imaging References Overview Gene (OMIM No.) RDH12 (#608830) Function of gene/protein Protein: retinal...

LCA describes a group of inherited retinal conditions that cause severe sight impairment or blindness from birth. There is now an approved treatment called Luxturna for patients with RPE65 mutations.

Overview LCA/EOSRD Additional information References Overview Gene (OMIM No.) CEP164 (#614845) Function of gene/protein Protein: Centrosomal protein 164 Microtubule organization...

Overview LCA/EOSRD Retinitis pigmentosa Additional information References Overview Gene (OMIM No.) IFT140 (#614620) Function of gene/protein Protein: Intraflagellar transport 140...

Overview LCA/EOSRD Retinitis pigmentosa References Overview Gene (OMIM no.) SPATA7 (#609868) Function of gene/protein Protein: Spermatogenesis-associated protein 7 Two isoforms...

Overview LCA/EOSRD Retinitis pigmentosa References Overview Gene (OMIM no.) AHI1 (#608894) Function of gene/protein Protein: Abelson helper integration site 1...

Overview LCA/EOSRD Cone/cone-rod dystrophy Additional information References Overview Gene (OMIM no.) GUCY2D (#600179) Function of gene/protein Protein: Retinal guanylyl cyclase...